BC Team Leading Innovative Advances for Childhood Cancer Diagnostics

A Vancouver based team led by Dr. Poul Sorensen, and funded in part by Genome BC, is providing meaningful advances in identifying genetic alterations in childhood sarcoma cancer tumours.

Childhood sarcomas are aggressive cancers that affect the bones and soft tissues of children and adolescents. These cancers are often very challenging, time-consuming and costly to diagnose accurately using standard microscope and molecular diagnostic techniques (PCR).

Since effective and curative treatments are directly linked to accurate and early diagnosis there is a significant need for precise, rapid and cost-effective molecular tools to help diagnose these cancers. Although, this has been happening with some success more advances are required.

The research team developed a novel diagnostic assay called "ChildSeq-RNA" based on next-generation sequencing technology to identify specific genetic alterations in childhood sarcomas known as gene fusions.

The technology has been proven to be more sophisticated than current methods because it looks for multiple gene fusions at the same time. The assay is also more rapid, informative, and cost-effective than current methodologies.

"This assay has the potential to bring research into real-time clinical analysis," says Dr. Sorensen, Senior Scientist at the BC Cancer Agency and Professor of Pathology and Laboratory Medicine at the University of British Columbia. "In my work I see a genuine need for this kind of diagnostic tool and I am proud that we have come up with it right here in BC."

ChildSeq-RNA is projected to be widely adopted by clinical laboratories worldwide and is being evaluated in a clinical setting at the prestigious and top ranked Texas Children's Hospital at Baylor College of Medicine. The research advances made by the multi-disciplinary team have recently been published in the Journal of Molecular Diagnostics.

"We congratulate the team on the development of this important research and their work to date," said Dr. Alan Winter, President and CEO of Genome BC. "Bringing discovery from bench to bedside is a key tenant of our mission and we are proud to help this team advance a new company based on their technology."

The research project, entitled Use of the Ion Torrent Next Generation Sequencing Platform for Rapid and Accurate Diagnosis of Childhood Cancers was funded through Genome BC's Proof of Concept program which to date represents a total investment of $9.6M for new genomics-related research projects.

This program provides financial support to accelerate the commercialization process for new genomics-related scientific or technological innovations; facilitate the advancement of discoveries based in genomics from the innovation to proof-of-concept stage "in a real world setting"; and develop new and novel products and services to the point that they are ready for licensing, industry investment, or spin-out.

The successful development of the assay has also spurred the creation of Fusion Genomics, a next generation sequencing assay development and bioinformatics company. "In addition to childhood sarcomas, the company is actively pursuing collaborations with leading international institutions to devise new tests for various others cancers, infectious diseases, and other diseases of global importance," says Dr. Mohammad Qadir, Chief Scientific Officer at Fusion Genomics.

"The aim of Fusion Genomics is to offer rapid, unambiguous and cost effective tools, including complete hands off analysis using Fusion Genomics proprietary and secure online computing platform to deliver "benchtop to desktop" services - this could lead to early and more effective diagnosis, which will ultimately save more lives".

Fusion's strategic business development and online computing services, known as a FusionCloud, are being supported through VentureLabs®, a world-class business accelerator program partnership of the University of Victoria, Simon Fraser University, British Columbia Institute of Technology and the Emily Carr University of Art + Design, in collaboration with Compute Canada.

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